|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
(Am J Med Genet 103:128-132, 2001) found the homozygous 677T allele of the methylenetetrahydrofolate (MTHFR) gene 677C-->T polymorphism in a mother and her child with DS and cervical meningomyelocele.
|
16602006 |
2006 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.
|
12080391 |
2002 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A meta-analysis of 11 case-control studies relating MTHFR C677T, MTHFR A1298C and MTRR A66G gene polymorphisms to the maternal risk of DS was carried out.
|
17934692 |
2007 |
|
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.
|
27852141 |
2017 |
|
rs9878047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant association was found between AVSD and three polymorphisms, namely rs9878047 (c.1049-129T > C), rs3774207 (c.1119C > T), and rs73118372 (c.1136T > C) among the Down syndrome and euploid individuals.
|
22987595 |
2012 |
|
rs711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Allelic/genotypic association analysis showed significant (P < 0.03) differences of rs2070530, rs1051476, rs11254, rs711 for DS subjects compared to control. rs711 also exhibited significantly different genotypic distribution pattern in parents of DS probands (P < 0.02) and BC patients (P < 0.02).
|
23343470 |
2013 |
|
rs429358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively).
|
20946940 |
2011 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Associations between MTHFR A1298C and the risk of having a child with DS were not found.
|
23295071 |
2013 |
|
rs9024
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CBR1 rs9024 genotype status impacts on cardiac CBR1 expression in non-DS hearts.
|
24562808 |
2014 |
|
rs1569686
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering this hypothesis we investigated the association of single nucleotide polymorphisms in the promoter region of the DNMT3B gene (rs1569686 -579G>T; rs2424913 -149C>T) with a predisposition of mothers to deliver a Down syndrome (DS) child.
|
25656965 |
2015 |
|
rs2424913
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Considering this hypothesis we investigated the association of single nucleotide polymorphisms in the promoter region of the DNMT3B gene (rs1569686 -579G>T; rs2424913 -149C>T) with a predisposition of mothers to deliver a Down syndrome (DS) child.
|
25656965 |
2015 |
|
rs1805087
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated.
|
12923861 |
2003 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated.
|
12923861 |
2003 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated.
|
12923861 |
2003 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated.
|
12923861 |
2003 |
|
rs142569954
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype.
|
12628594 |
2003 |
|
rs112735431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
rs461155
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ETS2 rs461155 showed high heterozygosity in DS.
|
22048266 |
2011 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
19725133 |
2009 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
19725133 |
2009 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found.
|
17934692 |
2007 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found.
|
17934692 |
2007 |
|
rs1979277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers.
|
21687976 |
2012 |
|
rs755981922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein.
|
29054759 |
2018 |
|
rs1323833193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein.
|
29054759 |
2018 |